ABSTRACT
Introducción: La rabdomiólisis es una enfermedad poco frecuente en pediatría. El objetivo es presentar un paciente en el que se desarrolló secundario a una deshidratación hipernatrémica grave tras una diarrea aguda. Caso clínico: Lactante de 11 meses que consultó por fiebre, vómitos, diarrea y anuria. Presentó convulsión tónico-clónica autolimitada. Ingresó en mal estado general, severamente deshidratado, con escasa reactividad. En las pruebas complementarias destacó acidosis metabólica grave, hipernatremia e insuficiencia renal prerrenal. Al tercer día apreció leve hipotonía axial y elevación de creatín fosfokinasa 75.076 UI/l, interpretado como rabdomiólisis. Se inició hiperhidratación y alcalinización sistémica, con buena respuesta clínica y bioquímica, siendo dado de alta sin secuelas motoras. Conclusiones: La hipernatremia grave está descrita como causa rara de rabdomiólisis e insuficiencia renal. En pacientes críticos es importante un alto índice de sospecha de rabdomiólisis y determinación seriada de la creatín fosfokinasa para su detección y tratamiento precoz.
Introduction: Rhabdomyolysis is a rare paediatric condition. The case is presented of a patient in whom this developed secondary to severe hypernatraemic dehydration following acute diarrhoea. Case report: Infant 11 months of age who presented with vomiting, fever, diarrhoea and anuria for 15 hours. Parents reported adequate preparation of artificial formula and oral rehydration solution. He was admitted with malaise, severe dehydration signs and symptoms, cyanosis, and low reactivity. The laboratory tests highlighted severe metabolic acidosis, hypernatraemia and pre-renal kidney failure (Sodium [Na] plasma 181 mEq/L, urine density> 1030). He was managed in Intensive Care Unit with gradual clinical and renal function improvement. On the third day, slight axial hypotonia and elevated cell lysis enzymes (creatine phosphokinase 75,076 IU/L) were observed, interpreted as rhabdomyolysis. He was treated with intravenous rehydration up to 1.5 times the basal requirements, and he showed a good clinical and biochemical response, being discharged 12 days after admission without motor sequelae. Conclusions: Severe hypernatraemia is described as a rare cause of rhabdomyolysis and renal failure. In critically ill patients, it is important to have a high index of suspicion for rhabdomyolysis and performing serial determinations of creatine phosphokinase for early detection and treatment.
Subject(s)
Animals , Guinea Pigs , Rabbits , Cytosine/analogs & derivatives , Delayed-Action Preparations/administration & dosage , Delayed-Action Preparations/chemistry , Organophosphonates/administration & dosage , Organophosphonates/chemistry , Vitreous Body/drug effects , Antiviral Agents/administration & dosage , Antiviral Agents/chemistry , Chemistry, Pharmaceutical/methods , Cytosine/administration & dosage , Cytosine/chemistry , Drug Delivery Systems/methods , Half-Life , Herpes Simplex/drug therapy , Herpesvirus 1, Human/drug effects , Intravitreal Injections/methods , Micelles , Prodrugs/administration & dosage , Prodrugs/chemistry , Retina/drug effects , Retina/virology , Vitreous Body/virologyABSTRACT
CONTEXT: Amplification of Guanine-Cytosine (GC) -rich sequences becomes important in screening and diagnosis of certain genetic diseases such as diseases arising due to expansion of GC-rich trinucleotide repeat regions. However, GC-rich sequences in the genome are refractory to standard polymerase chain reaction (PCR) amplification and require a special reaction conditions and/or modified PCR cycle parameters. AIM: Optimize a cost effective PCR assay to amplify the GC-rich DNA templates. SETTINGS AND DESIGN: Fragile X mental retardation gene (FMR 1) is an ideal candidate for PCR optimization as its GC content is more than 80%. Primers designed to amplify the GC rich 5’ untranslated region of the FMR 1 gene, was selected for the optimization of amplification using DNA extracted from buccal mucosal cells. MATERIALS AND METHODS: A simple and rapid protocol was used to extract DNA from buccal cells. PCR optimization was carried out using three methods, (a) substituting a substrate analog 7-deaza-dGTP to dGTP (b) in the presence of a single PCR additive and (c) using a combination of PCR additives. All PCR amplifications were carried out using a low-cost thermostable polymerase. RESULTS: Optimum PCR conditions were achieved when a combination of 1M betaine and 5% dimethyl sulfoxide (DMSO) was used. CONCLUSIONS: It was possible to amplify the GC rich region of FMR 1 gene with reproducibility in the presence of betaine and DMSO as additives without the use of commercially available kits for DNA extraction and the expensive thermostable polymerases.
Subject(s)
Cheek/cytology , Cytosine/analogs & derivatives , DNA/genetics , Enhancer Elements, Genetic/genetics , Fragile X Syndrome/genetics , Guanine/analogs & derivatives , Nucleic Acid Amplification Techniques , Polymerase Chain Reaction/methodsABSTRACT
O uso do cidofovir para papilomatose respiratória recorrente juvenil (PRRJ) ainda não tem estudos caso-controle suficientes que comprovem sua eficácia em literatura. OBJETIVO: Avaliar fatores que influenciem o prognóstico da PRRJ, e observar a atuação do cidofovir na erradicação da PRRJ. DESENHO DO ESTUDO: Retrospectivo. MATERIAIS E MÉTODOS: 22 crianças com PRRJ foram avaliadas num centro terciário. Todas as crianças foram submetidas ao tratamento cirúrgico, seguido (Grupo 2) ou não (Grupo 1) pelo uso do cidofovir. A idade ao diagnóstico foi correlacionada ao escore de Derkay e à evolução da doença. Os Grupos 1 e 2 tiveram suas evoluções comparadas entre si. RESULTADOS: Quinze crianças foram consideradas curadas, 8 no Grupo 2 e 7 no Grupo 1. Houve uma correlação negativa entre idade e Escores Total e Clínico (P<0,05). O número médio de cirurgias necessárias para controlar a doença foi semelhante entre os Grupos, mas a duração do tratamento até remissão foi significativamente maior no Grupo 1 quando comparado ao Grupo 2 (P<0,05). CONCLUSÕES: A PRRJ é mais agressiva quanto mais nova a idade do paciente ao diagnóstico. Pacientes tratados com cidofovir apresentaram duração significativamente menor de tratamento até erradicação da PRRJ do que os submetidos apenas ao tratamento cirúrgico.
The efficacy of cidofovir in juvenile recurrent respiratory papillomatosis (JRRP) remains uncertain due to the lack of published case-control studies. AIM: To establish factors affecting the progression of JRRP prognosis, and to evaluate cidofovir for eradicating JRRP. STUDY DESIGN: Retrospective. METHODS: 22 children with JRRP were evaluated at a referral center. All children underwent surgical debulking, followed by cidofovir injection (Group 2) or not (Group 1). Age at diagnosis was correlated with the Derkay score and disease outcome. Disease progression was compared between groups 1 and 2. RESULTS: fifteen children were considered disease-free; 8 were in Group 2 and 7 in Group 1. Age and total and clinical scores (P<0.05) were negatively correlated. The mean number of surgeries required to control the disease was identical in both groups; the duration of treatment until remission was significantly higher in Group 1 (P<0,05). CONCLUSION: JRRP is more aggressive in earlier onset disease. The duration of treatment was significantly lower in patients treated with cidofovir until eradication of JRRP compared to patients treated with surgery only.
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , Antiviral Agents/therapeutic use , Cytosine/analogs & derivatives , Phosphorous Acids , Papillomavirus Infections/therapy , Respiratory Tract Infections/therapy , Age Factors , Case-Control Studies , Cytosine/therapeutic use , Papillomavirus Infections/diagnosis , Recurrence , Retrospective Studies , Respiratory Tract Infections/diagnosis , Statistics, Nonparametric , Time Factors , Treatment OutcomeABSTRACT
OBJETIVO: Avaliar a eficácia da aplicação local de cidofovir em associação com o tratamento cirúrgico na papilomatose laríngea recorrente (PLR) em crianças. Desenho do estudo: Prospectivo. MÉTODOS: Quatorze pacientes, com idade média de 4.7 anos e com duas ou mais recidivas após tratamento cirúrgico, foram submetidos à ressecção dos papilomas e injeção de 22.5 mg de cidofovir (7,5 mg/ml) no tecido de onde as lesões foram removidas. Após intervalos de 2-3 semanas, a mesma dose de cidofovir foi repetida duas ou três vezes. Em caso de recidiva, um novo ciclo de cirurgia seguido de aplicações locais de cidofovir era reiniciado. Cinco crianças apresentavam HPV-6 e cinco HPV-11; em quatro casos a tipagem não foi realizada. RESULTADOS: Antes do início do estudo, os pacientes eram submetidos, em média, a duas cirurgias por ano para o controle das recidivas; após o tratamento com cidofovir, a taxa anual de cirurgia diminuiu para 1,1 (p = 0,013). O intervalo médio entre as recidivas antes do início do estudo era de 1.6 meses; ao final do estudo, o intervalo aumentou para 4,4 meses (p = 0,014). Os pacientes com HPV-6 não apresentaram alteração significante nos intervalos entre as recidivas após o tratamento com cidofovir, enquanto 60 por cento das crianças com HPV-11 encontravam-se livres de doença ao final do estudo. CONCLUSÃO: O cidofovir é um adjuvante eficaz no tratamento da PLR em crianças, quando utilizado sob a forma de aplicações locais em associação com a ressecção cirúrgica das lesões. O HPV-11 pode ser mais susceptível aos efeitos benéficos do cidofovir.
OBJECTIVE: Evaluate the efficacy of local application of cidofovir in association with surgical treatment of recurrent laryngeal papillomatosis in children. Study design: Prospective. METHODS: Fourteen patients, with an average age of 4.7 years and with two or more relapses after surgical treatment, were submitted to resection of the papillomas and injection of 22.5 mg of cidofovir (7.5 mg/ml) in the tissue where the lesions had been removed. After 2 to 3 week intervals, the same dose of cidofovir was repeated two or three times. In the case of relapse, a new cycle of surgery followed by local applications of cidofovir was repeated. Five children presented HPV-6 and five HPV-11, while in four, the type was not determined. RESULTS: Before beginning of the study, patients were submitted, on the average, to 2 operations a year for control of relapses. After treatment with cidofovir, the annual rate for surgery dropped to 1.1 (p = 0.013). The average interval between relapses before beginning of the study was 1.4 months; at the end of the study, the interval reached 4.4 months (p = 0.014). Patients with HPV-6 did not show a significant change in the intervals between relapses after treatment with cidofovir, while 60 percent of the children with HPV-11 were disease free at the study end. CONCLUSION: Cidofovir was found to be an effective adjuvant in the treatment of recurrent laryngeal papillomatosis in children, when used in the form of local applications in association with surgical resection of the lesions. HPV-11 may be more susceptible to the beneficial effects of cidofovir.
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , Antiviral Agents/administration & dosage , Cytosine/analogs & derivatives , Laryngeal Neoplasms/drug therapy , Neoplasm Recurrence, Local/drug therapy , Phosphorous Acids , Papilloma/drug therapy , Chemotherapy, Adjuvant , Cytosine/administration & dosage , /drug effects , /drug effects , Injections, Intralesional , Laryngeal Neoplasms/surgery , Laryngeal Neoplasms/virology , Neoplasm Recurrence, Local/prevention & control , Prospective Studies , Papilloma/surgery , Papilloma/virology , Treatment OutcomeABSTRACT
La Papilomatosis Respiratoria Recurrente (PRR) es una enfermedad causada por el virus papiloma humano (VPH) que se caracteriza por la presencia de tumores epiteliales en la vía aérea. Su principal mecanismo de contagio es por contacto directo, la zona más frecuentemente afectada es la laringe, pero puede comprometer cualquier lugar de la vía aéreo-digestiva. Sus manifestaciones van desde la disfonía a la obstrucción completa de la vía aérea, causando incluso la muerte. En algunas ocasiones los papilomas pueden malignizarse y transformarse en carcinoma epidermoide. El tratamiento existente es sólo paliativo y consiste en la excisión quirúrgica de los papilomas para mantener la vía aérea sin obstrucción y mejorar la calidad de la voz, pero tiene una alta tasa de recidiva y habitualmente se requieren múltiples intervenciones quirúrgicas, resultando un tratamiento de alto costo. En los últimos tiempos se ha usado el cidofovir, un nucleósido fosfanato acíclico, administrado en forma intralesional para el tratamiento de la papilomatosis laríngea obteniéndose promisorios resultados, observándose remisión completa en un alto porcentaje de los casos y disminución de las recidivas.
Recurrent respiratory papillomatosis (RRP) is a disease caused by infection with the human papillomavirus (HPV), and is characterized by the presence of epithelial tumors in the airway. It is most commonly spread by direct contact, and it usually affects the larynx, but it may involve any region of the airway. Its symptoms vary from dysphonia to complete obstruction of the airway, and it may even cause death. in some cases, papillomas can become malignant and transform into epidermoid carcinoma. Current treatments are only palliative, and consist of the papillomas surgical resection in order to maintain the airway unobstructed and to improve voice quality; but it has a high recurrency rate, and usually several surgical procedures are needed, resulting in a high-cost treatment. Recently, cidofovir, an acyclic nucleoside phosphonate, has been used for the intralesional treatment of laryngeal papillomatosis with promising results, including complete remission in a high percentage of cases, and decreased recurrence.
Subject(s)
Humans , Antiviral Agents/therapeutic use , Papilloma/drug therapy , Neoplasm Recurrence, Local/drug therapy , Cytosine/analogs & derivatives , Cytosine/therapeutic use , PapillomaviridaeABSTRACT
No abstract available.